|1.||Hecht, Jacqueline T: 15 articles (07/2014 - 03/2002)|
|2.||Briggs, Michael D: 11 articles (06/2015 - 05/2002)|
|3.||Hecht, J T: 8 articles (10/2011 - 06/2000)|
|4.||Alcorn, Joseph L: 6 articles (07/2014 - 04/2006)|
|5.||Posey, Karen L: 6 articles (02/2012 - 06/2004)|
|6.||Haynes, Richard: 5 articles (04/2006 - 06/2004)|
|7.||Bell, Peter A: 4 articles (06/2015 - 08/2013)|
|8.||Boot-Handford, Raymond P: 4 articles (01/2015 - 01/2010)|
|9.||Nishimura, Gen: 4 articles (01/2012 - 12/2002)|
|10.||Di Cesare, Paul E: 3 articles (07/2014 - 11/2004)|
|1.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
02/01/2012 - "Mutations in the COMP gene cause pseudoachondroplasia and multiple epiphyseal dysplasia. "
01/01/2012 - "Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution."
10/01/2011 - "Mutations in COMP cause two skeletal dysplasias: pseudoachondroplasia and multiple epiphyseal dysplasia. "
08/01/2009 - "Mutations in COMP cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1). "
10/01/2008 - "Pseudoachondroplasia is a disproportionate dwarfing condition associated with joint abnormalities, while multiple epiphyseal dysplasia is less severe. "
07/01/2014 - "Pseudoachondroplasia (PSACH) is a skeletal dysplasia characterized by disproportionate short stature, small hands and feet, abnormal joints and early onset osteoarthritis. "
11/01/2004 - "Pseudoachondroplasia (PSACH) is an autosomal dominant disease that mainly affects cartilage, resulting in skeletal dysplasias and early onset osteoarthritis. "
06/01/2004 - "Pseudoachondroplasia (PSACH) is a well-characterized dwarfing condition associated with disproportionate short stature, abnormal joints and osteoarthritis requiring joint replacement. "
01/01/2002 - "Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis. "
11/22/2001 - "Pseudoachondroplasia (PSACH) is a common skeletal dysplasia characterized by disproportionate short stature, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. "
11/01/2013 - "To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH). "
07/01/1994 - "The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. "
07/01/1994 - "We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. "
07/01/1994 - "Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia."
10/01/1993 - "Her mother has achondroplasia and her father has pseudoachondroplasia. "
07/01/2012 - "Hearing was normal in those with hypochondroplasia, pseudoachondroplasia, and microcephalic osteodysplastic primordial dwarfism. "
10/01/2008 - "Pseudoachondroplasia: A rare cause of rhizomelic dwarfism."
09/01/2004 - "Mesomelic dwarfism in pseudoachondroplasia."
12/01/1993 - "Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. "
04/01/1993 - "Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. "
|5.||Developmental Bone Diseases (Bone Dysplasia)
07/01/2008 - "Thus, we hypothesize that variable defects of cartilage extracellular matrix can result in similar abnormal patellar ossifications, and emphasize the importance of a lateral knee radiograph in patients with the pseudoachondroplasia-MED bone dysplasia group of disorders."
01/01/2010 - "Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias belonging to the same bone dysplasia family. "
05/01/2008 - "Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. "
10/01/2003 - "Semistructured interviews were conducted with 11 families who had children diagnosed with a bone dysplasia, specifically, achondroplasia (n = 9) and pseudoachondroplasia (n = 2). "
05/01/2002 - "Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetically and phenotypically heterogeneous. "
|1.||cartilage matrix protein
|3.||Proteins (Proteins, Gene)
|6.||congenita Spondyloepiphyseal dysplasia
|9.||Collagen Type IX
|10.||Growth Hormone (Somatotropin)